Factor V Variant Database

Terms with a '*' next to them are explained on the Help Page .

c.44G>A

p.Gly15Asp (Legacy AA No. -13)

Variant Type:

Point

Domain:

Signal Peptide

Location:

Exon 1

Variant Effect:

Missense

Codon Change:

44G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Allele Count *:

Allele Number *:

Allele Frequency *:

>13% FV:C; major bleeding events not observed

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
7	NA	N	NA	60	NA	55	NA	Heterozygous		Asymptomatic	>13% FV:C; major bleeding events not observed	Paraboschi et al 2020

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Gly	aliphatic	acyclic	small	surface	hydrophobic	neutral
Mutated	Asp	acidic	acyclic	medium	surface	hydrophilic	negative

Grantham Score : 94

PolyPhen-2 Prediction : probably damaging (SCORE: 1.000)

SIFT Prediction : Probably Damaging (SCORE: 0.02)

PROVEAN Prediction : Deleterious (SCORE: -4.418)

Gly15 is in a region on the surface of the FV structure that is undefined. Hence the FV structure and its JMOL applet are not shown below.

NOTE: If no Java applet appears or a Java error message is shown, please click the following LINK.

Please click here to view the Database Statistics

Factor X Variant Database